Mutation characterization and genotype, phenotype correlation in Barth syndrome

American Journal of Human Genetics

Volumn 61, Issue 5, 1997, Pages 1053-1058

  Johnston, Jennifer ^a,b   Kelley, Richard I ^c   Feigenbaum, Annette ^d   Cox, Gerald F ^e   Iyer, Geeta S ^a,b   Funanage, Vicky L ^a,b   Proujansky, Roy ^a,b  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACIDURIA; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; GENE DELETION; GENE INSERTION; GENETIC COUNSELING; HETEROZYGOTE DETECTION; HUMAN; MALE; MISSENSE MUTATION; NEUTROPENIA; PRIORITY JOURNAL; SYNDROME DELINEATION; X CHROMOSOME LINKAGE;

EID: 0030728921     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301604     Document Type: Article

References (17)

1. Barth PG, Scholte HR, Berden JA, Van Der Klei-Van Moorsel JM, Luyt-Houwen IEM, Van 'T Veer-Korthof ET, Van Der Harten JJ, et al (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. J Neurol Sci 62:327-355
2. Barth PG, Van den Bogert C, Bolhuis PA, Scholte HR, van Gennip AH, Schutgens RB, Ketel AG (1996) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. J Inherit Metab Dis 19:157-160
3. Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D (1996) A novel X-linked gene, G4.5 is responsible for Barth syndrome. Nat Genet 12:385-389
4. Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, Ward K (1997) Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 61:868-872
5. Bolhuis PA, Hensels GW, Hulsebos TJM, Baas F, Barth PG (1991) Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet 48:481-485
6. Christodoulou J, McInnes RR, Jay V, Wilson G, Becker LE, Lehotay DC, Platt B-A, et al (1994) Barth syndrome: clinical observations and genetic linkage studies. Am J Med Genet 50:255-264
7. D'Adamo P, Fassone L, Gedeon A, Janssen EAM, Bione S, Bolhuis PA, Barth PG, et al (1997) The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 61:862-867
8. Gedeon AK, Wilson MJ, Colley AC, Sillence DO, Mulley JC (1995) X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J Med Genet 32:383-388
9. Gibson KM, Bennett MJ, Mize CE, Jakobs C, Rotig A, Munnich A, Lichter-Konecki U, et al (1992) 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr 121:940-942
10. Gibson KM, Sherwood WG, Hoffmann GF, Stumpf DA, Dianzani I, Schutgens RBH, Barth PG, et al (1991) Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr 118:885-890
11. Hodgson S, Child A, Dyson M (1987) Endocardial fibroelastosis: possible X linked inheritance. J Med Genet 24: 210-214
12. Holme E, Greter J, Jacobson CE, Larsson NG, Lindstedt S, Nilsson KO, Oldfors A, et al (1992) Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. Pediatr Res 32:731-735
13. Ibel H, Endres W, Hadorn HB, Deufel T, Paetzke I, Duran M, Kennaway KG, et al (1993) Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. Eur J Pediatr 152:665-670
14. Ino T, Sherwood WG, Cutz E, Benson LN, Rose V, Freedom RM (1988) Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism. J Pediatr 113: 511-514
15. Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, Sladky JT, et al (1991) X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 119:738-747
16. Neustein HB, Lurie PR, Dahms B, Takahashi M (1979) An X-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 64:24-29
17. Ostman-Smith I, Brown G, Johnson A, Land JM (1994) Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. Br Heart J 72:349-353